Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 Biomarker HPO

Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 Biomarker HPO

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker HPO

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker HPO

Entrez Id: 10735
Gene Symbol: STAG2
STAG2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker HPO

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker HPO

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation CLINVAR

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation CLINVAR

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker HPO

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322

2019
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO

Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR

Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO

Entrez Id: 10297
Gene Symbol: APC2
APC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker HPO